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encyclopedia of Rare Disease Annotation for Precision Medicine

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	limited scleroderma

Disease ID	1404
Disease	limited scleroderma
Definition	The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma.
Synonym	limited systemic scleroderma limited systemic sclerodermas limited systemic sclerosis limited systemic sclerosis (disorder) scleroderma, limited scleroderma, limited [disease/finding] scleroderma, limited systemic sclerodermas, limited systemic systemic scleroderma, limited systemic sclerodermas, limited systemic sclerosis with limited cutaneous involvement systemic sclerosis with limited cutaneous involvement (disorder) systemic sclerosis, limited systemic sclerosis, limited (disorder) systemic sclerosis, limited (disorder) [ambiguous]
Orphanet	ORPHANET:220407
DOID	DOID:1577
UMLS	C0748540
MeSH	D045745
SNOMED-CT	SNOMEDCT_US_2016_09_01:298285004;SNOMEDCT_US_2016_09_01:299276009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:5) C1619734 \| pulmonary arterial hypertension \| 1 C0206062 \| interstitial lung disease \| 1 C0024115 \| lung disease \| 1 C0020538 \| hypertension \| 1 C0017658 \| glomerulonephritis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:47) 94 \| ACVRL1 \| 2.184 \| DISEASES 199 \| AIF1 \| 1.066 \| DISEASES 9447 \| AIM2 \| 1.872 \| DISEASES 212 \| ALAS2 \| 2.062 \| DISEASES 468 \| ATF4 \| 1.211 \| DISEASES 22926 \| ATF6 \| 1.363 \| DISEASES 51374 \| ATRAID \| 3.246 \| DISEASES 633 \| BGN \| 1.463 \| DISEASES 714 \| C1QC \| 1.357 \| DISEASES 720 \| C4A \| 1.317 \| DISEASES 721 \| C4B \| 1.171 \| DISEASES 1041 \| CDSN \| 2.473 \| DISEASES 1058 \| CENPA \| 4.761 \| DISEASES 1059 \| CENPB \| 5.149 \| DISEASES 1063 \| CENPF \| 2.285 \| DISEASES 80781 \| COL18A1 \| 1.876 \| DISEASES 91522 \| COL23A1 \| 2.6 \| DISEASES 1906 \| EDN1 \| 1.995 \| DISEASES 1907 \| EDN2 \| 1.794 \| DISEASES 1908 \| EDN3 \| 1.349 \| DISEASES 2022 \| ENG \| 2.282 \| DISEASES 2117 \| ETV3 \| 1.08 \| DISEASES 5394 \| EXOSC10 \| 2.754 \| DISEASES 2149 \| F2R \| 1.535 \| DISEASES 2200 \| FBN1 \| 1.228 \| DISEASES 11245 \| GPR176 \| 2.456 \| DISEASES 2993 \| GYPA \| 1.45 \| DISEASES 3115 \| HLA-DPB1 \| 1.464 \| DISEASES 3117 \| HLA-DQA1 \| 1.417 \| DISEASES 3151 \| HMGN2 \| 3.05 \| DISEASES 3181 \| HNRNPA2B1 \| 1.789 \| DISEASES 3339 \| HSPG2 \| 1.089 \| DISEASES 3428 \| IFI16 \| 3.36 \| DISEASES 3459 \| IFNGR1 \| 2.052 \| DISEASES 3597 \| IL13RA1 \| 2.832 \| DISEASES 90865 \| IL33 \| 1.114 \| DISEASES 4312 \| MMP1 \| 1.91 \| DISEASES 4332 \| MNDA \| 2.688 \| DISEASES 149628 \| PYHIN1 \| 3.524 \| DISEASES 6401 \| SELE \| 1.289 \| DISEASES 6625 \| SNRNP70 \| 3.186 \| DISEASES 63826 \| SRR \| 1.847 \| DISEASES 7150 \| TOP1 \| 3.368 \| DISEASES 7153 \| TOP2A \| 1.189 \| DISEASES 7155 \| TOP2B \| 1.756 \| DISEASES 79054 \| TRPM8 \| 1.851 \| DISEASES 83942 \| TSSK1B \| 2.897 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1404
Disease	limited scleroderma
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:5) HP:0002664 \| Neoplasia \| 1 HP:0000099 \| Glomerular nephritis \| 1 HP:0030159 \| Cervical polyp \| 1 HP:0000822 \| Hypertension \| 1 HP:0006530 \| Interstitial lung disease \| 1

Disease ID	1404
Disease	limited scleroderma
Manually Symptom	UMLS \| Name(Total Manually Symptoms:9) C1963220 \| pulmonary hypertension C1333460 \| esophageal melanoma C1112565 \| pneumatosis intestinalis C0748159 \| pulmonary involvement C0206062 \| interstitial lung disease C0151436 \| leukocytoclastic vasculitis C0038160 \| staphylococcal infection C0034155 \| thrombotic thrombocytopenic purpura C0026896 \| myasthenia gravis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0919725 \| digital necrosis \| 1 C0206062 \| interstitial lung disease \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1404
Disease	limited scleroderma
Case	(Waiting for update.)

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